[Evaluation of serum angiotensin converting enzyme [ACE] activity in type 1 Gaucher's patient and its relationship to ACE gene insertion/deletion in intron 16]

Background: Gaucher's disease is an autosomal recessive disease which is the result of mutations in the P glucocerebrosidase gene. The aim of this study was to evaluate activity level of ACE enzyme Iranian patients with Gaucher's disease type I, and also polymorphism I/D in intron 16 of ACE gene, as a marker in diagnosis and monitoring of disease

Materials and methods: The experiments were performed on 29 patients [mean age of 10.04 years] and 60 healthy subjects [mean age of 7.31 years]. Procedures included DNA extraction from blood, detection of polymorphism I/D by PCR and evaluation of activity level of ACE enzyme

Results: The mean of ACE activity was 231.07 U/L which was increased 4 times than normal status [56.03 U/L]. Evaluation of polymorphism I/D of the 29 patients showed t6 [20.7%] II, 9 [31%] DD and 14[48.3%]ID[p<0.05]

Conclusion: According to the results, the measurement of the ACE activity levels can be used as cofactors in diagnosis and as well as an important factor in the monitoring of treatment. Polymorphism I/D with respect to the role of the ACE activity can be effective in increasing the specificity of the experiments

report of two cases of TGM1 mutations in Iranian patients with lamellar ichthyosis

Autosomal Recessive Congenital Ichthyosis [ARCI] is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, Lamellar Ichthyosis [LI] and Nonbullous Congenital Ichthyosi-formis Erythroderma [NCIE]. Lamellar Ichtyosis is caused by mutations in the TGM1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGM1 is a complex enzyme existing as both cytosolic and membrane-bound forms. Moreover, TGM1 is proteolytically processed, and the major functionally active form consists of a membrane-bound 67/33/10-kDa complex with a myristoylated and palmitoylated amino-terminal 10-kDa membrane anchorage fragment. In this study, all 14 coding exons of TGM1 gene were investigated using PCR-sequencing method in three Iranian patients with different phenotypes which are often caused by homozygote or compound heterozygote mutations and a homozygote mutation [G218S] in exon 4 and three heterozygote mutations [R37K, D58N, D86N] in exon 2 were observed. The mutation [D86N] was seen in two patients simultaneously